Annotation Detail

Information
Associated Genes
SLC29A2
Associated Variants
SLC29A2 MUTATION
SLC29A2 MUTATION
Associated Disease
Isodicentric Chromosome 15 Syndrome
Source Database
DisGeNET
Description
We show that pan-telomeric and subtelomeric sequences were observed at the interstitial junction point of the inv dup(1q) and of the der(12)t(7;12), respectively.
Pubmed
25428228
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
9
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs